共 50 条
- [21] Inherited peripheral neuropathies: whole genome sequencing identifies a new treatable disorderEUROPEAN JOURNAL OF NEUROLOGY, 2019, 26 : 1002 - 1002Chelban, V.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, London, England UCL Inst Neurol, London, EnglandWilson, M.论文数: 0 引用数: 0 h-index: 0机构: UCL, Genet & Genom Med, GOS Inst Child Hlth, London, England UCL Inst Neurol, London, EnglandVandrovcova, J.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, London, England UCL Inst Neurol, London, EnglandZanetti, N.论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Clin & Expt Epilepsy, Inst Neurol, London, England UCL Inst Neurol, London, EnglandZamba-Papanicolaou, E.论文数: 0 引用数: 0 h-index: 0机构: Cyprus Inst Neurol & Genet, Nicosia, Cyprus UCL Inst Neurol, London, EnglandEfthymiou, S.论文数: 0 引用数: 0 h-index: 0机构: UCL, Mol Neurosci, London, England UCL Inst Neurol, London, EnglandPope, S.论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Neurol & Neurosurg, Neurometab Unit, Queen Sq, London, England UCL Inst Neurol, London, EnglandConte, M.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Randall Ctr Cell & Mol Biophys, London, England UCL Inst Neurol, London, England论文数: 引用数: h-index:机构:Nicolaou, P.论文数: 0 引用数: 0 h-index: 0机构: Cyprus Inst Neurol & Genet, Nicosia, Cyprus UCL Inst Neurol, London, EnglandMinaidou, A.论文数: 0 引用数: 0 h-index: 0机构: Cyprus Inst Neurol & Genet, Nicosia, Cyprus UCL Inst Neurol, London, EnglandFoiani, M.论文数: 0 引用数: 0 h-index: 0机构: UCL, UK Dementia Res Inst, London, England UCL Inst Neurol, London, EnglandZetterberg, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Gothenburg, Sahlgrenska Acad, Sect Clin Neurosci & Rehabil, Gothenburg, Sweden UCL Inst Neurol, London, EnglandWood, N.论文数: 0 引用数: 0 h-index: 0机构: Inst Neurol, London, England UCL Inst Neurol, London, EnglandRothman, J.论文数: 0 引用数: 0 h-index: 0机构: Yale Sch Med, Dept Cell Biol, New Haven, CT USA UCL Inst Neurol, London, EnglandMills, P.论文数: 0 引用数: 0 h-index: 0机构: UCL, Genet & Genom Med, GOS Inst Child Hlth, London, England UCL Inst Neurol, London, EnglandClayton, P.论文数: 0 引用数: 0 h-index: 0机构: UCL, Genet & Genom Med, GOS Inst Child Hlth, London, England UCL Inst Neurol, London, EnglandHoulden, H.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, London, England UCL Inst Neurol, London, England
- [22] Whole-Exome Sequencing in the Isolated Populations of Cilento from South ItalyScientific Reports, 9T. Nutile论文数: 0 引用数: 0 h-index: 0机构: Institute of Genetics and Biophysics A. Buzzati-Traverso-CNR,D. Ruggiero论文数: 0 引用数: 0 h-index: 0机构: Institute of Genetics and Biophysics A. Buzzati-Traverso-CNR,A. F. Herzig论文数: 0 引用数: 0 h-index: 0机构: Institute of Genetics and Biophysics A. Buzzati-Traverso-CNR,A. Tirozzi论文数: 0 引用数: 0 h-index: 0机构: Institute of Genetics and Biophysics A. Buzzati-Traverso-CNR,S. Nappo论文数: 0 引用数: 0 h-index: 0机构: Institute of Genetics and Biophysics A. Buzzati-Traverso-CNR,R. Sorice论文数: 0 引用数: 0 h-index: 0机构: Institute of Genetics and Biophysics A. Buzzati-Traverso-CNR,F. Marangio论文数: 0 引用数: 0 h-index: 0机构: Institute of Genetics and Biophysics A. Buzzati-Traverso-CNR,C. Bellenguez论文数: 0 引用数: 0 h-index: 0机构: Institute of Genetics and Biophysics A. Buzzati-Traverso-CNR,A. L. Leutenegger论文数: 0 引用数: 0 h-index: 0机构: Institute of Genetics and Biophysics A. Buzzati-Traverso-CNR,M. Ciullo论文数: 0 引用数: 0 h-index: 0机构: Institute of Genetics and Biophysics A. Buzzati-Traverso-CNR,
- [23] Whole-Exome Sequencing in the Isolated Populations of Cilento from South ItalySCIENTIFIC REPORTS, 2019, 9 (1)Nutile, T.论文数: 0 引用数: 0 h-index: 0机构: CNR, Inst Genet & Biophys A Buzzati Traverso, Naples, Italy CNR, Inst Genet & Biophys A Buzzati Traverso, Naples, ItalyRuggiero, D.论文数: 0 引用数: 0 h-index: 0机构: CNR, Inst Genet & Biophys A Buzzati Traverso, Naples, Italy IRCCS Neuromed, Pozzilli, Isernia, Italy CNR, Inst Genet & Biophys A Buzzati Traverso, Naples, ItalyHerzig, A. F.论文数: 0 引用数: 0 h-index: 0机构: Inserm, UMR 946, Genet Variat & Human Dis, F-75010 Paris, France Univ Paris Diderot, Sorbonne Paris Cite, UMR946, F-75010 Paris, France CNR, Inst Genet & Biophys A Buzzati Traverso, Naples, ItalyTirozzi, A.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Neuromed, Pozzilli, Isernia, Italy CNR, Inst Genet & Biophys A Buzzati Traverso, Naples, ItalyNappos, S.论文数: 0 引用数: 0 h-index: 0机构: AORN Santobono Pausilipon Hosp, Naples, Italy CNR, Inst Genet & Biophys A Buzzati Traverso, Naples, ItalySorice, R.论文数: 0 引用数: 0 h-index: 0机构: CNR, Inst Genet & Biophys A Buzzati Traverso, Naples, Italy CNR, Inst Genet & Biophys A Buzzati Traverso, Naples, ItalyMarangio, F.论文数: 0 引用数: 0 h-index: 0机构: CNR, Inst Genet & Biophys A Buzzati Traverso, Naples, Italy CNR, Inst Genet & Biophys A Buzzati Traverso, Naples, Italy论文数: 引用数: h-index:机构:Leutenegger, A. L.论文数: 0 引用数: 0 h-index: 0机构: Inserm, UMR 946, Genet Variat & Human Dis, F-75010 Paris, France Univ Paris Diderot, Sorbonne Paris Cite, UMR946, F-75010 Paris, France CNR, Inst Genet & Biophys A Buzzati Traverso, Naples, ItalyCiullo, M.论文数: 0 引用数: 0 h-index: 0机构: CNR, Inst Genet & Biophys A Buzzati Traverso, Naples, Italy IRCCS Neuromed, Pozzilli, Isernia, Italy CNR, Inst Genet & Biophys A Buzzati Traverso, Naples, Italy
- [24] UTILIZING WHOLE EXOME SEQUENCING TO IDENTIFY GENETIC CAUSES OF INHERITED PLATELET DEFECTSAMERICAN JOURNAL OF HEMATOLOGY, 2014, 89 (06) : E90 - E91Nance, Danielle论文数: 0 引用数: 0 h-index: 0机构: Univ Utah Salt Lake City, Salt Lake City, UT USA Univ Utah Salt Lake City, Salt Lake City, UT USARondina, Matthew论文数: 0 引用数: 0 h-index: 0机构: Univ Utah Salt Lake City, Salt Lake City, UT USA Univ Utah Salt Lake City, Salt Lake City, UT USADiPaula, Jorge论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado Denver, Denver, CO USA Univ Utah Salt Lake City, Salt Lake City, UT USA
- [25] Whole-exome sequencing in 168 Korean patients with inherited retinal degenerationBMC MEDICAL GENOMICS, 2021, 14 (01)论文数: 引用数: h-index:机构:Lee, Hyun-Seob论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ Hosp, Translat Res Inst, Biomed Res Inst, Genom Core Facil, Seoul, South Korea Seoul Natl Univ Hosp, Biomed Res Inst, Retinal Degenerat Res Lab, Seoul, South KoreaKim, Kwangsoo论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ Hosp, Transdisciplinary Dept Med & Adv Technol, Seoul, South Korea Seoul Natl Univ Hosp, Biomed Res Inst, Retinal Degenerat Res Lab, Seoul, South KoreaChoi, Seongmin论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ Hosp, Biomed Res Inst, Seoul, South Korea Seoul Natl Univ Hosp, Biomed Res Inst, Retinal Degenerat Res Lab, Seoul, South KoreaJang, Insoon论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ Hosp, Biomed Res Inst, Seoul, South Korea Seoul Natl Univ Hosp, Biomed Res Inst, Retinal Degenerat Res Lab, Seoul, South KoreaCho, Seo-Ho论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ Hosp, Biomed Res Inst, Seoul, South Korea Seoul Natl Univ Hosp, Biomed Res Inst, Retinal Degenerat Res Lab, Seoul, South KoreaYoon, Chang Ki论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ Hosp, Biomed Res Inst, Retinal Degenerat Res Lab, Seoul, South Korea Seoul Natl Univ, Dept Ophthalmol, Coll Med, Seoul, South Korea Seoul Natl Univ Hosp, Biomed Res Inst, Retinal Degenerat Res Lab, Seoul, South KoreaLee, Eun Kyoung论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ Hosp, Biomed Res Inst, Retinal Degenerat Res Lab, Seoul, South Korea Seoul Natl Univ, Dept Ophthalmol, Coll Med, Seoul, South Korea Seoul Natl Univ Hosp, Biomed Res Inst, Retinal Degenerat Res Lab, Seoul, South KoreaYu, Hyeong Gon论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ Hosp, Biomed Res Inst, Retinal Degenerat Res Lab, Seoul, South Korea Seoul Natl Univ, Dept Ophthalmol, Coll Med, Seoul, South Korea Seoul Natl Univ Hosp, Biomed Res Inst, Retinal Degenerat Res Lab, Seoul, South Korea
- [26] Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal DisordersCLINICAL GENETICS, 2025,Yavas, Cuneyd论文数: 0 引用数: 0 h-index: 0机构: Biruni Univ, Dept Mol Biol & Genet, Istanbul, Turkiye Biruni Univ, Dept Mol Biol & Genet, Istanbul, TurkiyeArvas, Yunus Emre论文数: 0 引用数: 0 h-index: 0机构: Van Yuzuncu Yil Univ, Dept Mol Biol & Genet, Van, Turkiye Biruni Univ, Dept Mol Biol & Genet, Istanbul, TurkiyeDogan, Mustafa论文数: 0 引用数: 0 h-index: 0机构: Basaksehir Cam & Sakura City Hosp, Genet Dis Assessment Ctr, Istanbul, Turkiye Biruni Univ, Dept Mol Biol & Genet, Istanbul, TurkiyeGezdirici, Alper论文数: 0 引用数: 0 h-index: 0机构: Basaksehir Cam & Sakura City Hosp, Genet Dis Assessment Ctr, Istanbul, Turkiye Biruni Univ, Dept Mol Biol & Genet, Istanbul, TurkiyeAslan, Elif Sibel论文数: 0 引用数: 0 h-index: 0机构: Biruni Univ, Dept Mol Biol & Genet, Istanbul, Turkiye Biruni Univ, Dept Mol Biol & Genet, Istanbul, TurkiyeKarapapak, Murat论文数: 0 引用数: 0 h-index: 0机构: Basaksehir Cam & Sakura City Hosp, Eye Dis, Istanbul, Turkiye Biruni Univ, Dept Mol Biol & Genet, Istanbul, TurkiyeBaris, Savas论文数: 0 引用数: 0 h-index: 0机构: Aydin Obstet & Gynecol Hosp, Genet Dis Diag Ctr, Aydin, Turkiye Biruni Univ, Dept Mol Biol & Genet, Istanbul, TurkiyeEroz, Recep论文数: 0 引用数: 0 h-index: 0机构: Aksaray Univ, Med Fac, Dept Med Genet, Aksaray, Turkiye Biruni Univ, Dept Mol Biol & Genet, Istanbul, Turkiye
- [27] Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencingMOLECULAR GENETICS & GENOMIC MEDICINE, 2015, 3 (02): : 143 - 154Drew, Alexander P.论文数: 0 引用数: 0 h-index: 0机构: ANZAC Res Inst, Northcott Neurosci Lab, Sydney, NSW, Australia Concord Repatriat Gen Hosp, ANZAC Res Inst, Gate 3 Hosp Rd, Sydney, NSW 2015, Australia ANZAC Res Inst, Northcott Neurosci Lab, Sydney, NSW, AustraliaZhu, Danqing论文数: 0 引用数: 0 h-index: 0机构: Concord Hosp, Mol Med Lab, Sydney, NSW, Australia ANZAC Res Inst, Northcott Neurosci Lab, Sydney, NSW, AustraliaKidambi, Aditi论文数: 0 引用数: 0 h-index: 0机构: ANZAC Res Inst, Northcott Neurosci Lab, Sydney, NSW, Australia ANZAC Res Inst, Northcott Neurosci Lab, Sydney, NSW, AustraliaLy, Carolyn论文数: 0 引用数: 0 h-index: 0机构: ANZAC Res Inst, Northcott Neurosci Lab, Sydney, NSW, Australia ANZAC Res Inst, Northcott Neurosci Lab, Sydney, NSW, Australia论文数: 引用数: h-index:机构:Brewer, Megan H.论文数: 0 引用数: 0 h-index: 0机构: ANZAC Res Inst, Northcott Neurosci Lab, Sydney, NSW, Australia Univ Sydney, Sydney Med Sch, Sydney, Australia ANZAC Res Inst, Northcott Neurosci Lab, Sydney, NSW, AustraliaAhmad-Annuar, Azlina论文数: 0 引用数: 0 h-index: 0机构: Univ Malaya, Fac Med, Dept Biomed Sci, Kuala Lumpur 50603, Malaysia ANZAC Res Inst, Northcott Neurosci Lab, Sydney, NSW, AustraliaNicholson, Garth A.论文数: 0 引用数: 0 h-index: 0机构: ANZAC Res Inst, Northcott Neurosci Lab, Sydney, NSW, Australia Concord Hosp, Mol Med Lab, Sydney, NSW, Australia Univ Sydney, Sydney Med Sch, Sydney, Australia ANZAC Res Inst, Northcott Neurosci Lab, Sydney, NSW, AustraliaKennerson, Marina L.论文数: 0 引用数: 0 h-index: 0机构: ANZAC Res Inst, Northcott Neurosci Lab, Sydney, NSW, Australia Concord Hosp, Mol Med Lab, Sydney, NSW, Australia Univ Sydney, Sydney Med Sch, Sydney, Australia ANZAC Res Inst, Northcott Neurosci Lab, Sydney, NSW, Australia
- [28] APPLICATION OF WHOLE-EXOME SEQUENCING TECHNOLOGY IN DIAGNOSIS OF INHERITED PLATELET DISORDERSINTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2019, 41 : 21 - 21Bai, Xia论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Affiliated Hosp 1, Suzhou, Peoples R China Soochow Univ, Affiliated Hosp 1, Suzhou, Peoples R ChinaShen, Hongjie论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Affiliated Hosp 1, Suzhou, Peoples R China Soochow Univ, Affiliated Hosp 1, Suzhou, Peoples R ChinaXie, Jundan论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Affiliated Hosp 1, Suzhou, Peoples R China Soochow Univ, Affiliated Hosp 1, Suzhou, Peoples R ChinaJiang, Miao论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Affiliated Hosp 1, Suzhou, Peoples R China Soochow Univ, Affiliated Hosp 1, Suzhou, Peoples R ChinaRuan, Changgeng论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Affiliated Hosp 1, Suzhou, Peoples R China Soochow Univ, Affiliated Hosp 1, Suzhou, Peoples R China
- [29] Whole exome sequencing identifies novel inherited genetic variants in tetralogy of FallotJOURNAL OF THORACIC DISEASE, 2022, : 3008 - 3015Pan, Yu论文数: 0 引用数: 0 h-index: 0机构: Guizhou Prov Peoples Hosp, Intens Care Unit, Guiyang, Guizhou, Peoples R China Guizhou Prov Peoples Hosp, Intens Care Unit, 83 Zhongshan Dong Rd, Guiyang, Peoples R China Guizhou Prov Peoples Hosp, Intens Care Unit, Guiyang, Guizhou, Peoples R ChinaLiu, Manli论文数: 0 引用数: 0 h-index: 0机构: Guizhou Prov Peoples Hosp, Intens Care Unit, Guiyang, Guizhou, Peoples R China Guizhou Prov Peoples Hosp, Intens Care Unit, Guiyang, Guizhou, Peoples R ChinaZhang, Songsong论文数: 0 引用数: 0 h-index: 0机构: Guizhou Prov Peoples Hosp, Intens Care Unit, Guiyang, Guizhou, Peoples R China Guizhou Prov Peoples Hosp, Intens Care Unit, Guiyang, Guizhou, Peoples R ChinaMei, Huaxian论文数: 0 引用数: 0 h-index: 0机构: Guizhou Prov Peoples Hosp, Intens Care Unit, Guiyang, Guizhou, Peoples R China Guizhou Prov Peoples Hosp, Intens Care Unit, Guiyang, Guizhou, Peoples R ChinaWu, Jing论文数: 0 引用数: 0 h-index: 0机构: Guizhou Prov Peoples Hosp, Intens Care Unit, Guiyang, Guizhou, Peoples R China Guizhou Prov Peoples Hosp, Intens Care Unit, Guiyang, Guizhou, Peoples R China
- [30] Whole-exome sequencing in 168 Korean patients with inherited retinal degenerationBMC Medical Genomics, 14Dae Joong Ma论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Retinal Degeneration Research Lab, Biomedical Research InstituteHyun-Seob Lee论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Retinal Degeneration Research Lab, Biomedical Research InstituteKwangsoo Kim论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Retinal Degeneration Research Lab, Biomedical Research InstituteSeongmin Choi论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Retinal Degeneration Research Lab, Biomedical Research InstituteInsoon Jang论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Retinal Degeneration Research Lab, Biomedical Research InstituteSeo-Ho Cho论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Retinal Degeneration Research Lab, Biomedical Research InstituteChang Ki Yoon论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Retinal Degeneration Research Lab, Biomedical Research InstituteEun Kyoung Lee论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Retinal Degeneration Research Lab, Biomedical Research InstituteHyeong Gon Yu论文数: 0 引用数: 0 h-index: 0机构: Seoul National University Hospital,Retinal Degeneration Research Lab, Biomedical Research Institute